W33* (p.Trp33Ter) variant of ETFDH (Q16134)
W33* (p.Trp33Ter) in ETFDH (Q16134) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W33* (p.Trp33Ter) variant details
- p.Trp33Ter
- 1000Genomes rs569257408
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available